A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001262



Internal ID18743793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240482501..240671892hg38UCSC Ensembl
Innerchr2:241421918..241611309hg19UCSC Ensembl
Innerchr2:241070591..241259982hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38189392
hg19189392
hg18189392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586981
Samples
Known GenesANKMY1, CAPN10, CAPN10-AS1, DUSP28, GPR35, RNPEPL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001262
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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